MCID: MYT023
MIFTS: 53

Myotonia Congenita

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myotonia Congenita

MalaCards integrated aliases for Myotonia Congenita:

Name: Myotonia Congenita 12 24 53 25 54 59 37 29 55 6 44 15 72
Congenital Myotonia, Autosomal Dominant Form 12 29 6
Thomsen and Becker Disease 53 59
Congenital Myotonia 25 59
Generalized Myotonia of Thomsen 72
Thomsen's Disease 12
Thomsen Disease 12

Characteristics:

Orphanet epidemiological data:

59
thomsen and becker disease
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

GeneReviews:

24
Penetrance The majority of the autosomal dominant pathogenic variants can be associated with reduced penetrance. family members heterozygous for the same pathogenic variant may exhibit variable phenotypes ranging from absence of myotonia to severe myotonia.

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:2106
KEGG 37 H00705
ICD9CM 35 359.22
MeSH 44 D009224
NCIt 50 C84912
ICD10 via Orphanet 34 G71.1
UMLS via Orphanet 73 C0027127 C2936781
UMLS 72 C0027127 C2936781

Summaries for Myotonia Congenita

Genetics Home Reference : 25 Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. Myotonia causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. These muscle problems are particularly noticeable during movement following a period of rest. Many affected individuals find that repeated movements can temporarily alleviate their muscle stiffness, a phenomenon known as the warm-up effect. The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness, particularly in males. People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. They may also develop mild, permanent muscle weakness over time. This muscle weakness is not seen in people with Thomsen disease.

MalaCards based summary : Myotonia Congenita, also known as congenital myotonia, autosomal dominant form, is related to myotonia and myotonic dystrophy, and has symptoms including muscular stiffness and lid lag. An important gene associated with Myotonia Congenita is CLCN1 (Chloride Voltage-Gated Channel 1), and among its related pathways/superpathways are Hepatic ABC Transporters and Phase 0 - rapid depolarisation. The drugs Mexiletine and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and tongue, and related phenotypes are emg abnormality and myotonia

Disease Ontology : 12 A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.

NIH Rare Diseases : 53 Myotonia congenita is a genetic disease characterized by the inability of the skeletal muscles to quickly relax after voluntary movements. Symptoms typically begin in childhood and vary from person to person. They may include muscle stiffness, muscle weakness, and attacks of weakness brought on by movement after rest. There are two forms of myotonia congenita: Becker disease, which is the most common and severe, generalized form; and Thomsen disease, which is a rare and milder form. Both forms are caused by mutations in the CLCN1 gene. The Becker type is inherited in an autosomal recessive manner, and the Thomsen type is inherited in an autosomal dominant manner. Treatment may include medication for muscle stiffness, such as mexiletine, carbamazepine, or phenytoin. Exercise may temporarily alleviate myotonia. People with myotonia congenita may be at increased risk for harmful side effects of anesthesia. Therefore, it is recommended that relatives of a person with the disease are tested during childhood.

NINDS : 54 Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.  The condition is present from early childhood, but symptoms can be mild.  Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest.  The disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement.  Muscle strength is increased.  There are two forms of the disorder:  Becker-type, which is the most common form; and Thomsen’s disease, which is a rare and milder form.  The disorder is caused by mutations in a gene responsible for shutting off electrical excitation in the muscles.

KEGG : 37
Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal muscle chloride channel ClC-1. Impaired functioning of the ClC-1 leads to an increase in sarcolemmal excitability that clinically presents as delayed muscular relaxation (myotonia). Myotonia congenita may be inherited as either an autosomal dominant (Thomsen disease) or recessive trait (Becker disease). The predominant features of Thomsen disease are a painless, transient, muscle stiffness with a predilection for both the upper extremity and the facial muscles. Compared with Thomsen disease, Becker disease is more common, more insidious, and has initial symptoms that occur later in childhood. Two additional forms of myotonia congenita have been described: myotonia levior and fluctuating myotonia congenita. Like Becker and Thomsen disease, both of these conditions are associated with a defect in the ClC-1. Whether these two entities are truly distinct disorders is under debate, and some propose that they are variants of Thomsen disease.

Wikipedia : 75 Myotonia congenita, is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles... more...

GeneReviews: NBK1355

Related Diseases for Myotonia Congenita

Diseases in the Myotonia Congenita family:

Myotonia Congenita, Autosomal Dominant Myotonia Congenita, Autosomal Recessive

Diseases related to Myotonia Congenita via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 myotonia 32.7 SCN4A CNBP CLCN1
2 myotonic dystrophy 31.3 CNBP CLCN1
3 malignant hyperthermia 30.6 SCN4A CACNA1S
4 myotonic dystrophy 1 30.4 CNBP CLCN1
5 periodic paralyses 30.3 SCN4A CACNA1S
6 myotonic disease 30.3 SCN4A CNBP CLCN1
7 hyperkalemic periodic paralysis 30.2 SCN4A CLCN1 CACNA1S
8 myotonic dystrophy 2 30.0 SCN4A CNBP CLCN1
9 muscular disease 28.4 SCN4A MSTN CNBP CLCN1 CACNA1S
10 myotonia congenita, autosomal recessive 12.9
11 myotonia congenita, autosomal dominant 12.9
12 paramyotonia congenita of von eulenburg 12.2
13 myotonia, potassium-aggravated 12.1
14 thomsen's myotonia 11.7
15 becker's myotonia 11.7
16 nondystrophic myotonia 11.7
17 myopathy, congenital 11.7
18 myotonia atrophica 10.6
19 muscle hypertrophy 10.5
20 myopathy 10.5
21 endomyocardial fibrosis 10.3
22 periodic paralysis 10.3
23 myasthenia gravis 10.3
24 hypothyroidism 10.3
25 episodic kinesigenic dyskinesia 1 10.2
26 strabismus 10.2
27 monocular esotropia 10.2
28 mechanical strabismus 10.2
29 esotropia 10.2
30 muscular dystrophy 10.2
31 skeletal muscle disease 10.2
32 muscular dystrophy, duchenne type 10.0
33 creatine phosphokinase, elevated serum 10.0
34 myositis 10.0
35 wolff-parkinson-white syndrome 10.0
36 myxedema 10.0
37 ataxia and polyneuropathy, adult-onset 10.0
38 rippling muscle disease 2 10.0
39 cyanosis, transient neonatal 10.0
40 scoliosis 10.0
41 ptosis 10.0
42 charcot-marie-tooth disease 10.0
43 tooth disease 10.0
44 hypoparathyroidism 10.0
45 facial paralysis 10.0
46 motor neuron disease 10.0
47 hereditary spastic paraplegia 10.0
48 progressive muscular atrophy 10.0
49 neuromuscular disease 10.0
50 movement disease 10.0

Graphical network of the top 20 diseases related to Myotonia Congenita:



Diseases related to Myotonia Congenita

Symptoms & Phenotypes for Myotonia Congenita

Human phenotypes related to Myotonia Congenita:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
2 myotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002486

UMLS symptoms related to Myotonia Congenita:


muscular stiffness, lid lag

MGI Mouse Phenotypes related to Myotonia Congenita:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 CACNA1S CLCN1 MSTN PRRT2 SCN4A
2 muscle MP:0005369 9.26 CACNA1S CLCN1 MSTN SCN4A
3 skeleton MP:0005390 9.02 CACNA1S CLCN1 CNBP MSTN PRRT2

Drugs & Therapeutics for Myotonia Congenita

Drugs for Myotonia Congenita (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
4 Sodium Channel Blockers Phase 3
5 Diuretics, Potassium Sparing Phase 3
6 Anti-Arrhythmia Agents Phase 3
7 Tranquilizing Agents Phase 3
8 Hormones Phase 3
9 Central Nervous System Depressants Phase 3
10 Antipsychotic Agents Phase 3
11 Psychotropic Drugs Phase 3
12 Calcium, Dietary Phase 3
13 Anticonvulsants Phase 3
14 calcium channel blockers Phase 3
15
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
16
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Mexiletine in Non-dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
2 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
3 Combining N-of-1 Trials to Estimate Population Clinical and Cost-effectiveness of Drugs Using Bayesian Hierarchical Modeling. The Case of Mexiletine for Patients With Non- Dystrophic Myotonia. Completed NCT02045667 Phase 2 Mexiletine;Placebo
4 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
5 Relations Between Fitness Status and the Severity of Myotonia in Patients With Congenital Myotonia Completed NCT02161835
6 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413

Search NIH Clinical Center for Myotonia Congenita

Cochrane evidence based reviews: myotonia congenita

Genetic Tests for Myotonia Congenita

Genetic tests related to Myotonia Congenita:

# Genetic test Affiliating Genes
1 Myotonia Congenita 29
2 Congenital Myotonia, Autosomal Dominant Form 29 CLCN1

Anatomical Context for Myotonia Congenita

MalaCards organs/tissues related to Myotonia Congenita:

41
Skeletal Muscle, Testes, Tongue, Brain, T Cells

Publications for Myotonia Congenita

Articles related to Myotonia Congenita:

(show top 50) (show all 468)
# Title Authors PMID Year
1
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. 9 38 4 71
11840191 2001
2
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. 38 4 71
22649220 2012
3
A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. 38 4 71
11113225 2000
4
Decrement of compound muscle action potential is related to mutation type in myotonia congenita. 9 38 71
12661046 2003
5
A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. 9 38 71
9122265 1997
6
Myotonia levior is a chloride channel disorder. 9 38 71
7581380 1995
7
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. 9 38 71
7951242 1994
8
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). 9 38 71
8112288 1994
9
Dosage effect of a dominant CLCN1 mutation: a novel syndrome. 9 38 4
18263754 2008
10
Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression. 9 38 4
17097617 2006
11
Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita. 9 38 4
16629771 2006
12
Myotonia Congenita 38 71
20301529 2005
13
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. 9 38 4
15162127 2004
14
Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation. 38 71
10644771 2000
15
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. 9 38 4
9566422 1998
16
Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia. 38 71
10737121 1998
17
Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. 9 38 4
8857733 1996
18
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. 38 71
8533761 1995
19
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). 38 71
7981750 1993
20
The skeletal muscle chloride channel in dominant and recessive human myotonia. 38 71
1379744 1992
21
Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia. 38 4
25088311 2014
22
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. 38 4
23893571 2014
23
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 38 4
23739125 2013
24
Pathophysiologic and anesthetic considerations for patients with myotonia congenita or periodic paralyses. 38 4
23802937 2013
25
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. 38 4
24349310 2013
26
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. 38 4
21387378 2011
27
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 71
20298421 2010
28
Myotonia congenita and myotonic dystrophy: surveillance and management. 38 4
20842486 2010
29
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 71
18337100 2009
30
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. 38 4
17932099 2007
31
Phenotypic variability in myotonia congenita. 38 4
15786415 2005
32
Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders. 38 4
12699527 2003
33
Novel CLCN1 mutations with unique clinical and electrophysiological consequences. 38 4
12390967 2002
34
Myotonia caused by mutations in the muscle chloride channel gene CLCN1. 71
11933197 2002
35
Founder mutations and the high prevalence of myotonia congenita in northern Finland. 38 4
10430417 1999
36
Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. 38 4
8857727 1996
37
Novel muscle chloride channel mutations and their effects on heterozygous carriers. 9 4
8571958 1996
38
A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker). 71
7951215 1994
39
Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker). 71
8301644 1993
40
Management of pregnancy with Thomsen's disease. 4
23806446 2013
41
Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction. 4
23671115 2013
42
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. 4
23408874 2013
43
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2. 4
22407275 2012
44
Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. 4
23032552 2012
45
Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita. 9 38
20399394 2010
46
Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene. 9 38
19697366 2010
47
A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease. 9 38
20120005 2010
48
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita. 9 38
19949657 2009
49
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 9 38
20076800 2009
50
Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M). 9 38
19840739 2009

Variations for Myotonia Congenita

ClinVar genetic disease variations for Myotonia Congenita:

6 (show top 50) (show all 223)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CLCN1 NM_000083.3(CLCN1): c.2635C> T (p.Gln879Ter) single nucleotide variant Pathogenic rs1057518917 7:143048726-143048726 7:143351633-143351633
2 CLCN1 NM_000083.3(CLCN1): c.898_899delinsTA (p.Arg300Ter) indel Pathogenic rs1554436419 7:143027909-143027910 7:143330816-143330817
3 CLCN1 NM_000083.3(CLCN1): c.979G> A (p.Val327Ile) single nucleotide variant Pathogenic rs774396430 7:143027990-143027990 7:143330897-143330897
4 CLCN1 NM_000083.3(CLCN1): c.1063G> A (p.Gly355Arg) single nucleotide variant Pathogenic rs767000881 7:143028408-143028408 7:143331315-143331315
5 CLCN1 NM_000083.3(CLCN1): c.1129C> T (p.Arg377Ter) single nucleotide variant Pathogenic rs201714423 7:143028708-143028708 7:143331615-143331615
6 CLCN1 NM_000083.3(CLCN1): c.1261dup (p.Arg421fs) duplication Pathogenic rs763633152 7:143029826-143029826 7:143332733-143332733
7 CLCN1 NM_000083.3(CLCN1): c.1471+1G> A single nucleotide variant Pathogenic rs375596425 7:143036416-143036416 7:143339323-143339323
8 CLCN1 NM_000083.3(CLCN1): c.1876C> T (p.Arg626Ter) single nucleotide variant Pathogenic rs201894078 7:143039544-143039544 7:143342451-143342451
9 CLCN1 NM_000083.3(CLCN1): c.1238T> G (p.Phe413Cys) single nucleotide variant Pathogenic rs121912799 7:143029583-143029583 7:143332490-143332490
10 CLCN1 NM_000083.3(CLCN1): c.689G> A (p.Gly230Glu) single nucleotide variant Pathogenic rs80356700 7:143018934-143018934 7:143321841-143321841
11 CLCN1 NM_000083.3(CLCN1): c.1488G> T (p.Arg496Ser) single nucleotide variant Pathogenic rs121912801 7:143036620-143036620 7:143339527-143339527
12 CLCN1 NM_000083.3(CLCN1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs80356694 7:143036383-143036383 7:143339290-143339290
13 CLCN1 NM_000083.3(CLCN1): c.870C> G (p.Ile290Met) single nucleotide variant Pathogenic rs80356690 7:143027881-143027881 7:143330788-143330788
14 CLCN1 NM_000083.3(CLCN1): c.1412C> T (p.Ser471Phe) single nucleotide variant Pathogenic rs80356693 7:143036356-143036356 7:143339263-143339263
15 CLCN1 NM_000083.3(CLCN1): c.1438C> A (p.Pro480Thr) single nucleotide variant Pathogenic rs80356695 7:143036382-143036382 7:143339289-143339289
16 CLCN1 NM_000083.3(CLCN1): c.1592C> T (p.Ala531Val) single nucleotide variant Pathogenic rs80356704 7:143039031-143039031 7:143341938-143341938
17 CLCN1 NM_000083.3(CLCN1): c.1667T> A (p.Ile556Asn) single nucleotide variant Pathogenic rs80356697 7:143039106-143039106 7:143342013-143342013
18 CLCN1 NM_000083.3(CLCN1): c.2330del (p.Gly777fs) deletion Pathogenic rs80356707 7:143043717-143043717 7:143346624-143346624
19 CLCN1 NM_000083.3(CLCN1): c.2512_2513insCTCA (p.His838fs) insertion Pathogenic rs80356698 7:143047664-143047665 7:143350571-143350572
20 CLCN1 NM_000083.3(CLCN1): c.394A> T (p.Ser132Cys) single nucleotide variant Pathogenic rs80356684 7:143017849-143017849 7:143320756-143320756
21 CLCN1 NM_000083.3(CLCN1): c.577G> A (p.Glu193Lys) single nucleotide variant Pathogenic rs80356686 7:143018822-143018822 7:143321729-143321729
22 CLCN1 NM_000083.3(CLCN1): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic rs80356699 7:143017837-143017837 7:143320744-143320744
23 CLCN1 NM_000083.3(CLCN1): c.566C> T (p.Ser189Phe) single nucleotide variant Pathogenic rs121912810 7:143018811-143018811 7:143321718-143321718
24 CLCN1 CLCN1, TRP433ARG undetermined variant Pathogenic
25 CLCN1 NM_000083.3(CLCN1): c.847C> T (p.Leu283Phe) single nucleotide variant Pathogenic rs80356688 7:143021579-143021579 7:143324486-143324486
26 CLCN1 NM_000083.3(CLCN1): c.920T> C (p.Phe307Ser) single nucleotide variant Pathogenic rs80356701 7:143027931-143027931 7:143330838-143330838
27 CLCN1 NM_000083.3(CLCN1): c.929C> T (p.Thr310Met) single nucleotide variant Pathogenic rs80356691 7:143027940-143027940 7:143330847-143330847
28 CLCN1 NM_000083.3(CLCN1): c.937G> A (p.Ala313Thr) single nucleotide variant Pathogenic rs80356692 7:143027948-143027948 7:143330855-143330855
29 CLCN1 NM_000083.3(CLCN1): c.1453A> G (p.Met485Val) single nucleotide variant Pathogenic rs146457619 7:143036397-143036397 7:143339304-143339304
30 CLCN1 NM_000083.3(CLCN1): c.854G> A (p.Gly285Glu) single nucleotide variant Pathogenic rs150885084 7:143027865-143027865 7:143330772-143330772
31 CLCN1 NM_000083.3(CLCN1): c.1437_1450del (p.Pro480fs) deletion Pathogenic rs768119034 7:143036381-143036394 7:143339288-143339301
32 CLCN1 NM_000083.3(CLCN1): c.180+3A> T single nucleotide variant Pathogenic rs202217420 7:143013488-143013488 7:143316395-143316395
33 CLCN1 NM_000083.2(CLCN1): c.50_434-202del deletion Pathogenic 7:143013355-143018256 7:143316262-143321163
34 CLCN1 NM_000083.3(CLCN1): c.1644_1645del (p.Glu548fs) deletion Pathogenic 7:143039083-143039084 7:143341990-143341991
35 CLCN1 NM_000083.3(CLCN1): c.2172+1G> T single nucleotide variant Pathogenic 7:143042856-143042856 7:143345763-143345763
36 CLCN1 NM_000083.3(CLCN1): c.2285-1G> C single nucleotide variant Pathogenic 7:143043671-143043671 7:143346578-143346578
37 CLCN1 NM_000083.3(CLCN1): c.2518_2519del (p.Leu840fs) deletion Pathogenic 7:143047670-143047671 7:143350577-143350578
38 CLCN1 NM_000083.3(CLCN1): c.302-1G> A single nucleotide variant Pathogenic 7:143017756-143017756 7:143320663-143320663
39 CLCN1 NM_000083.3(CLCN1): c.478C> T (p.Gln160Ter) single nucleotide variant Pathogenic 7:143018502-143018502 7:143321409-143321409
40 CLCN1 NM_000083.3(CLCN1): c.789del (p.Ser264fs) deletion Pathogenic 7:143021521-143021521 7:143324428-143324428
41 CLCN1 NC_000007.13: g.(?_143042594)_(143047767_?)del deletion Pathogenic 7:143042594-143047767 7:143345501-143350674
42 CLCN1 NM_000083.3(CLCN1): c.751del (p.Ser251fs) deletion Pathogenic 7:143020456-143020456 7:143323363-143323363
43 CLCN1 NM_000083.3(CLCN1): c.1357del (p.Arg453fs) deletion Pathogenic 7:143029922-143029922 7:143332829-143332829
44 CLCN1 NM_000083.3(CLCN1): c.1357dup (p.Arg453fs) duplication Pathogenic 7:143029922-143029922 7:143332829-143332829
45 CLCN1 NM_000083.3(CLCN1): c.1784G> A (p.Trp595Ter) single nucleotide variant Pathogenic 7:143039223-143039223 7:143342130-143342130
46 CLCN1 NM_000083.3(CLCN1): c.2831dup (p.Gly945fs) duplication Pathogenic/Likely pathogenic rs755176513 7:143048922-143048922 7:143351829-143351829
47 CLCN1 NM_000083.3(CLCN1): c.774+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs776073429 7:143020480-143020480 7:143323387-143323387
48 CLCN1 NM_000083.3(CLCN1): c.1013G> A (p.Arg338Gln) single nucleotide variant Pathogenic/Likely pathogenic rs80356703 7:143028358-143028358 7:143331265-143331265
49 CLCN1 NM_000083.3(CLCN1): c.803C> T (p.Thr268Met) single nucleotide variant Pathogenic/Likely pathogenic rs80356687 7:143021535-143021535 7:143324442-143324442
50 CLCN1 NM_000083.3(CLCN1): c.950G> A (p.Arg317Gln) single nucleotide variant Pathogenic/Likely pathogenic rs80356702 7:143027961-143027961 7:143330868-143330868

Expression for Myotonia Congenita

Search GEO for disease gene expression data for Myotonia Congenita.

Pathways for Myotonia Congenita

Pathways related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.05 CLCN1 CACNA1S
2
Show member pathways
10.5 SCN4A CACNA1S

GO Terms for Myotonia Congenita

Cellular components related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 8.32 CLCN1

Biological processes related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.43 SCN4A CLCN1 CACNA1S
2 transmembrane transport GO:0055085 9.33 SCN4A CLCN1 CACNA1S
3 regulation of ion transmembrane transport GO:0034765 9.13 SCN4A CLCN1 CACNA1S
4 muscle contraction GO:0006936 8.8 SCN4A CLCN1 CACNA1S

Molecular functions related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 8.62 SCN4A CACNA1S

Sources for Myotonia Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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